| - GRCh37:
- Chr17:59544871
- GRCh38:
- Chr17:61467510
| TBX4 | W134* | Absence of the sacrum, Hypoplastic left heart, Hydronephrosis,
Aplasia/hypoplasia involving bones of the lower limbs, Pulmonary hypoplasia, Hydroureter
| Pathogenic
(Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:11565915
- GRCh38:
- Chr8:11708406
| GATA4 | A32P | Atrioventricular septal defect 4, Atrial septal defect, Hydronephrosis,
Respiratory failure, Abdominal distention, Abnormal pulmonary interstitial morphology,
Pulmonary hypoplasia, Primary microcephaly, Gastrointestinal obstruction,
Respiratory failure requiring assisted ventilation, Intestinal obstructionVentricular septal defect,
...see more | Uncertain significance
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42752628
- GRCh38:
- Chr19:42248476
| ERF | R546*, R471* | Inborn genetic diseases, Atrial septal defect, Hydronephrosis,
Respiratory failure, Abdominal distention, Abnormal pulmonary interstitial morphology,
Pulmonary hypoplasia, Primary microcephaly, Gastrointestinal obstruction,
Respiratory failure requiring assisted ventilation, Intestinal obstructionVentricular septal defect,
...see more | Uncertain significance
(Oct 30, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:36985092-36985093
- GRCh38:
- Chr5:36984990-36984991
| NIPBL | | Cornelia de Lange syndrome 1, Right ventricular hypertrophy, Long philtrum,
Penile hypospadias, Single umbilical artery, Fetal growth restriction,
Microretrognathia, Pulmonary hypoplasia, Cryptorchidism,
Congenital diaphragmatic hernia | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| | | | Bilateral lung agenesis, Abnormality of the respiratory system, Autism with high cognitive abilities,
Recurrent otitis media, Speech apraxia, Hypernasal speech,
Epistaxis, Pulmonary hypoplasia, Velopharyngeal insufficiency,
Asthma | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Clinodactyly, Abnormality of the abdominal wall, Thoracic hypoplasia,
Cutis laxa, Camptodactyly, Olfactory lobe agenesis,
Small thenar eminence, Bicornuate uterus, Labial hypoplasia,
Congenital diaphragmatic hernia, Pulmonary hypoplasiaScoliosis,
...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:44278832-44278833
- GRCh38:
- Chr6:44311095-44311096
| POLR1C, AARS2 | C218fs | Combined oxidative phosphorylation defect type 8, Pulmonary hypoplasia, not provided
| Pathogenic
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:44272249
- GRCh38:
- Chr6:44304512
| AARS2, POLR1C | R592W | Inborn genetic diseases, not provided, Combined oxidative phosphorylation defect type 8,
Pulmonary hypoplasia | Pathogenic/Likely pathogenic
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |